Variant report

Variant	rs11741738
Chromosome Location	chr5:52320029-52320030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52319764..52321344-chr5:52327151..52329228,2	K562	blood:
2	chr5:52318784..52321169-chr5:52323561..52325105,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10041086	0.85[CHB][hapmap]
rs12655582	0.87[EUR][1000 genomes]
rs1421940	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2075614	0.83[ASN][1000 genomes]
rs2287950	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3212435	0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3212436	0.85[CHB][hapmap]
rs3212446	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3212483	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3212537	0.81[ASN][1000 genomes]
rs3212556	0.80[ASN][1000 genomes]
rs3776788	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3776789	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3797497	0.85[CHB][hapmap]
rs3797500	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62357234	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs716436	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv880425	chr5:52291279-52345868	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52303400-52320400	Weak transcription	Fetal Brain Male	brain
2	chr5:52307000-52333800	Weak transcription	Gastric	stomach
3	chr5:52313600-52321000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:52313800-52320400	Weak transcription	Brain Anterior Caudate	brain
5	chr5:52313800-52323400	Weak transcription	Spleen	Spleen
6	chr5:52314200-52328600	Weak transcription	Lung	lung
7	chr5:52314200-52348000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:52314400-52323400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:52314400-52323400	Weak transcription	Fetal Intestine Small	intestine
10	chr5:52314400-52326200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:52317200-52327200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:52317400-52326800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:52317600-52326800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:52317600-52333600	Weak transcription	Colonic Mucosa	Colon
15	chr5:52317800-52321800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:52318400-52321600	Enhancers	Hela-S3	cervix
17	chr5:52318400-52321800	Genic enhancers	NHEK	skin
18	chr5:52318400-52331800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:52318600-52322200	Enhancers	A549	lung
20	chr5:52318800-52320400	Enhancers	NHLF	lung
21	chr5:52318800-52320600	Enhancers	HUVEC	blood vessel
22	chr5:52318800-52321200	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:52318800-52321600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr5:52318800-52327200	Genic enhancers	HMEC	breast
25	chr5:52319000-52320600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:52319000-52320800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:52319000-52325400	Enhancers	Brain Substantia Nigra	brain
28	chr5:52319200-52320200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:52319200-52320400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:52319200-52325400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:52319200-52326200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:52319200-52327600	Weak transcription	Fetal Intestine Large	intestine
33	chr5:52319400-52320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr5:52319400-52320600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:52319400-52320600	Enhancers	Osteobl	bone
36	chr5:52319400-52320800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:52319600-52320200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:52319600-52320800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr5:52319600-52322200	Enhancers	HepG2	liver
40	chr5:52319600-52323200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:52319600-52323200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:52319600-52326600	Weak transcription	Small Intestine	intestine
43	chr5:52319800-52320200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:52319800-52320200	Weak transcription	Brain Hippocampus Middle	brain
45	chr5:52319800-52320200	Enhancers	NH-A	brain
46	chr5:52319800-52320600	Enhancers	HSMM	muscle
47	chr5:52319800-52320800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:52319800-52321800	Enhancers	Fetal Lung	lung
49	chr5:52320000-52320400	Enhancers	NHDF-Ad	bronchial
50	chr5:52320000-52320600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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